Variant position: 1442 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 5202 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AKSQELSYTVEGLKPYRIYE FTITLCNSVGCVTSASGAGQT
Mouse AKSQDQSYIVRGLEPYRTYS FTVSLCDSVGCVTSALGSGQT
Rat AESQDQSYIVQRLKPYRTYS FTVSLCASVGCVTSALGEGQT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Mendez-Vidal C.; Gonzalez-Del Pozo M.; Vela-Boza A.; Santoyo-Lopez J.; Lopez-Domingo F.J.; Vazquez-Marouschek C.; Dopazo J.; Borrego S.; Antinolo G.;
Mol. Vis. 19:2187-2195(2013)
Cited for: VARIANTS RP39 SER-1442 AND ARG-5063;
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